Limb Malformations
An Atlas of Genetic Disorders of Limb Development
Authors: Mundlos, Stefan, Horn, Denise
- Practical guide to the diagnosis of limb malformations
- Abundantly illustrated with many clinical photos and radiographs
- Comprehensive and concise
Buy this book
- eBook 124,94 € gross
-
( price for Spain )
- ISBN 978-3-540-95928-1
- digitally watermarked, no DRM
- included format: PDF, EPUB
- eBooks can be used on all Reading Devices
- download immediately after purchase
- Hardcover 155,99 € gross
-
( price for Spain )
- ISBN 978-3-540-95927-4
- free shipping for individuals worldwide
- online orders shipping within 2-3 days.
- The final prices may differ from the prices shown due to specifics of VAT rules
- About this book
-
One aim of this atlas is to present a comprehensive overview of limb malformation phenotypes in order to provide the clinician with a tool that facilitates the diagnostic process. With the enormous advances in molecular and developmental biology, the genetic basis of many limb malformations and their relationship to each other has been elucidated. Thus, a further aim of this atlas is to provide the reader with a basic understanding of the molecular pathology of these conditions.
The book is extensively illustrated with clinical photos and radiographs of conditions or groups of related conditions. In addition, a concise description of the conditions is provided featuring structured information on “Synonyms”, “Major clinical findings”, “Genetic transmission”, “Differential diagnosis”, “Molecular Pathology”, and references to Mendelian Inheritance in Man (OMIM).
The book is designed for medical geneticists, radiologists, pediatricians, hand surgeons, orthopedic surgeons, as well as medical personnel and other physicians involved in the evaluation and treatment of patients with abnormal limbs.
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Table of contents (101 chapter)
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Development of the Limbs
Mundlos, Stefan (et al.)
Pages 2-9
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Clinical Assessment and Anthropometry of the Limbs
Mundlos, Stefan (et al.)
Pages 10-16
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Radiology of the Limb
Mundlos, Stefan (et al.)
Pages 17-21
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Preaxial Polydactyly
Mundlos, Stefan (et al.)
Pages 30-30
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Postaxial Polydactyly
Mundlos, Stefan (et al.)
Pages 31-32
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Greig Cephalopolysyndactyly Syndrome
Mundlos, Stefan (et al.)
Pages 33-35
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Triphalangeal Thumb-Polydactyly Syndrome
Mundlos, Stefan (et al.)
Pages 36-37
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Synpolydactyly
Mundlos, Stefan (et al.)
Pages 38-40
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Laurin–Sandrow Syndrome
Mundlos, Stefan (et al.)
Pages 41-43
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Ellis–Van Creveld Syndrome
Mundlos, Stefan (et al.)
Pages 46-48
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Short Rib-Polydactyly Syndromes
Mundlos, Stefan (et al.)
Pages 49-50
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Bardet–Biedl Syndrome
Mundlos, Stefan (et al.)
Pages 51-52
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Meckel Syndrome
Mundlos, Stefan (et al.)
Pages 53-54
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Carpenter Syndrome
Mundlos, Stefan (et al.)
Pages 55-56
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Acrocallosal Syndrome
Mundlos, Stefan (et al.)
Pages 57-58
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Townes–Brocks Syndrome
Mundlos, Stefan (et al.)
Pages 59-60
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Pallister–Hall Syndrome
Mundlos, Stefan (et al.)
Pages 61-62
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Syndactyly Type Lueken
Mundlos, Stefan (et al.)
Pages 64-65
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Metacarpal 4–5 Fusion Syndrome
Mundlos, Stefan (et al.)
Pages 66-66
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Syndactyly Type Haas
Mundlos, Stefan (et al.)
Pages 67-68
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Acropectorovertebral Dysplasia
Mundlos, Stefan (et al.)
Pages 69-70
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Apert Syndrome
Mundlos, Stefan (et al.)
Pages 72-73
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Craniosynostosis, Philadelphia Type
Mundlos, Stefan (et al.)
Pages 74-75
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Fraser Syndrome
Mundlos, Stefan (et al.)
Pages 76-77
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Cenani–Lenz Syndrome
Mundlos, Stefan (et al.)
Pages 78-79
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Oculodentodigital Dysplasia
Mundlos, Stefan (et al.)
Pages 80-81
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Oro-Facial-Digital Syndrome, Type 1
Mundlos, Stefan (et al.)
Pages 82-83
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Ectodermal Dysplasia–Syndactyly Syndrome
Mundlos, Stefan (et al.)
Pages 84-85
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Smith–Lemli–Opitz Syndrome
Mundlos, Stefan (et al.)
Pages 86-86
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Brachydactyly Type A1
Mundlos, Stefan (et al.)
Pages 88-89
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Brachydactyly Type A2
Mundlos, Stefan (et al.)
Pages 90-91
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Brachydactyly Type B1
Mundlos, Stefan (et al.)
Pages 92-94
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Brachydactyly Type B2
Mundlos, Stefan (et al.)
Pages 95-96
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Brachydactyly Type C
Mundlos, Stefan (et al.)
Pages 97-98
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Brachydactyly Type E; Brachydactyly Type D
Mundlos, Stefan (et al.)
Pages 99-100
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Cooks Syndrome
Mundlos, Stefan (et al.)
Pages 101-102
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Adams–Oliver Syndrome
Mundlos, Stefan (et al.)
Pages 104-105
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Hand-Foot-Genital Syndrome
Mundlos, Stefan (et al.)
Pages 106-107
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Catel–Manzke Syndrome
Mundlos, Stefan (et al.)
Pages 108-109
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Feingold Syndrome
Mundlos, Stefan (et al.)
Pages 110-111
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Albright Hereditary Osteodystrophy
Mundlos, Stefan (et al.)
Pages 112-113
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Brachydactyly-Hypertension Syndrome
Mundlos, Stefan (et al.)
Pages 114-115
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Rubinstein–Taybi Syndrome
Mundlos, Stefan (et al.)
Pages 116-117
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Cranioectodermal Dysplasia
Mundlos, Stefan (et al.)
Pages 118-119
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Temtamy Preaxial Brachydactyly Syndrome
Mundlos, Stefan (et al.)
Pages 120-122
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Fibrodysplasia Ossificans Progressiva
Mundlos, Stefan (et al.)
Pages 123-125
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Enchondromatosis, Ollier Type
Mundlos, Stefan (et al.)
Pages 126-127
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Trichorhinophalangeal Syndrome
Mundlos, Stefan (et al.)
Pages 128-129
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Acrodysostosis, With or Without Hormone Resistance
Mundlos, Stefan (et al.)
Pages 130-131
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Acromicric Dysplasia
Mundlos, Stefan (et al.)
Pages 132-132
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Symphalangism; Multiple Synostoses Syndrome; Tarsal/Carpal Coalition Syndrome; Teunissen–Cremers Syndrome
Mundlos, Stefan (et al.)
Pages 134-137
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Antley–Bixler Syndrome With/Without Genital Anomalies or Disordered Steroidogenesis
Mundlos, Stefan (et al.)
Pages 138-139
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Liebenberg Syndrome
Mundlos, Stefan (et al.)
Pages 140-142
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Nail–Patella Syndrome
Mundlos, Stefan (et al.)
Pages 143-145
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Small Patella Syndrome
Mundlos, Stefan (et al.)
Pages 146-147
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Larsen Syndrome
Mundlos, Stefan (et al.)
Pages 148-149
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Amyoplasia Congenita
Mundlos, Stefan (et al.)
Pages 152-153
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Freeman–Sheldon Syndrome
Mundlos, Stefan (et al.)
Pages 154-155
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Multiple Pterygium Syndrome, Escobar Variant
Mundlos, Stefan (et al.)
Pages 156-157
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Beals Syndrome
Mundlos, Stefan (et al.)
Pages 158-159
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Acheiropodia
Mundlos, Stefan (et al.)
Pages 162-163
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Al-Awadi/Raas–Rothschild/Schinzel Phocomelia Syndrome
Mundlos, Stefan (et al.)
Pages 164-166
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Tetra-Amelia, Peromelia
Mundlos, Stefan (et al.)
Pages 167-167
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Hanhart Syndrome
Mundlos, Stefan (et al.)
Pages 168-169
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Roberts Syndrome
Mundlos, Stefan (et al.)
Pages 170-171
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Focal Dermal Hypoplasia
Mundlos, Stefan (et al.)
Pages 172-173
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Deficiency of Long Bones with Clubfoot and Mirror-Image Polydactyly
Mundlos, Stefan (et al.)
Pages 176-178
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Femoral-Facial Syndrome
Mundlos, Stefan (et al.)
Pages 179-180
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Gollop–Wolfgang Complex
Mundlos, Stefan (et al.)
Pages 181-181
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Sirenomelia
Mundlos, Stefan (et al.)
Pages 182-183
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Poland Syndrome
Mundlos, Stefan (et al.)
Pages 186-187
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Terminal Transverse Defect
Mundlos, Stefan (et al.)
Pages 188-188
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Thrombocytopenia-Absent Radius Syndrome
Mundlos, Stefan (et al.)
Pages 190-192
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Fanconi Anemia
Mundlos, Stefan (et al.)
Pages 193-194
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Holt–Oram Syndrome
Mundlos, Stefan (et al.)
Pages 195-197
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Okihiro Syndrome
Mundlos, Stefan (et al.)
Pages 198-199
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Lacrimo-Auriculo-Dento-Digital (LADD) Syndrome
Mundlos, Stefan (et al.)
Pages 200-202
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Nager Syndrome
Mundlos, Stefan (et al.)
Pages 203-204
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Baller–Gerold Syndrome
Mundlos, Stefan (et al.)
Pages 205-206
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Richieri-Costa–Pereira Syndrome
Mundlos, Stefan (et al.)
Pages 207-208
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Femur–Fibula–Ulna Syndrome
Mundlos, Stefan (et al.)
Pages 210-210
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Ulnar-Mammary Syndrome
Mundlos, Stefan (et al.)
Pages 211-212
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Genée–Wiedemann Syndrome
Mundlos, Stefan (et al.)
Pages 213-214
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Cornelia de Lange Syndrome
Mundlos, Stefan (et al.)
Pages 215-216
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Amnion Rupture Sequence
Mundlos, Stefan (et al.)
Pages 218-219
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Thalidomide Embryopathy
Mundlos, Stefan (et al.)
Pages 220-222
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Valproate Embryopathy
Mundlos, Stefan (et al.)
Pages 223-223
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Split Hand/Foot Malformation (SHFM)
Mundlos, Stefan (et al.)
Pages 226-228
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Split Hand/Foot Malformation with Long Bone Deficiency (SHFLD)
Mundlos, Stefan (et al.)
Pages 229-231
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Split Hand/Foot Malformation (SHFM), Syndromic, p63 Associated
Mundlos, Stefan (et al.)
Pages 232-234
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Hartsfield Syndrome
Mundlos, Stefan (et al.)
Pages 235-236
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Acromesomelic Dysplasia, Maroteaux Type
Mundlos, Stefan (et al.)
Pages 238-239
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Léri–Weill Dyschondrosteosis; Mesomelic Dysplasia, Langer Type
Mundlos, Stefan (et al.)
Pages 240-241
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Robinow Syndrome
Mundlos, Stefan (et al.)
Pages 243-244
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Mesomelic Dysplasia, Kantaputra Type
Mundlos, Stefan (et al.)
Pages 245-246
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Grebe Dysplasia; Hunter–Thompson Dysplasia; Du Pan Dysplasia; Chondrodysplasia, Acromesomelic, BMPR1B Type
Mundlos, Stefan (et al.)
Pages 247-250
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Mesomelic Dysplasia, Werner Type
Mundlos, Stefan (et al.)
Pages 251-253
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Nievergelt Syndrome
Mundlos, Stefan (et al.)
Pages 254-254
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Hemihyperplasia, Isolated
Mundlos, Stefan (et al.)
Pages 256-257
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Klippel–Trénaunay–Weber Syndrome
Mundlos, Stefan (et al.)
Pages 258-259
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Proteus Syndrome
Mundlos, Stefan (et al.)
Pages 260-261
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-
Buy this book
- eBook 124,94 € gross
-
( price for Spain )
- ISBN 978-3-540-95928-1
- digitally watermarked, no DRM
- included format: PDF, EPUB
- eBooks can be used on all Reading Devices
- download immediately after purchase
- Hardcover 155,99 € gross
-
( price for Spain )
- ISBN 978-3-540-95927-4
- free shipping for individuals worldwide
- online orders shipping within 2-3 days.
- The final prices may differ from the prices shown due to specifics of VAT rules
Services for this Book
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Bibliographic Information
- Bibliographic Information
-
- Book Title
- Limb Malformations
- Book Subtitle
- An Atlas of Genetic Disorders of Limb Development
- Copyright
- 2014
- Publisher
- Springer-Verlag Berlin Heidelberg
- Copyright Holder
- Springer-Verlag Berlin Heidelberg
- eBook ISBN
- 978-3-540-95928-1
- DOI
- 10.1007/978-3-540-95928-1
- Hardcover ISBN
- 978-3-540-95927-4
- Edition Number
- 1